2024-03-29 09:47:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004527 2330 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA. ACCESSION NM_004527 VERSION NM_004527.3 GI:84105331 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2330) AUTHORS Mohamed,J.Y., Faqeih,E., Alsiddiky,A., Alshammari,M.J., Ibrahim,N.A. and Alkuraya,F.S. TITLE Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly JOURNAL Am. J. Hum. Genet. 92 (1), 157-161 (2013) PUBMED 23290072 REMARK GeneRIF: We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript REFERENCE 2 (bases 1 to 2330) AUTHORS Thiaville,M.M., Stoeck,A., Chen,L., Wu,R.C., Magnani,L., Oidtman,J., Shih,Ie.M., Lupien,M. and Wang,T.L. TITLE Identification of PBX1 target genes in cancer cells by global mapping of PBX1 binding sites JOURNAL PLoS ONE 7 (5), E36054 (2012) PUBMED 22567123 REMARK GeneRIF: The results demonstrate that MEOX1 is a critical target gene and cofactor of PBX1 in ovarian cancers. REFERENCE 3 (bases 1 to 2330) AUTHORS Vatanavicharn,N., Graham,J.M. Jr., Curry,C.J., Pepkowitz,S., Lachman,R.S., Rimoin,D.L. and Wilcox,W.R. TITLE Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1 JOURNAL Am. J. Med. Genet. A 143A (19), 2292-2302 (2007) PUBMED 17764081 REMARK GeneRIF: No mutations were identified in the PAX1 and MEOX1 exons or flanking intronic sequences, excluding them as likely causative genes for diaphanospondylodysostosis REFERENCE 4 (bases 1 to 2330) AUTHORS Wissmuller,S., Kosian,T., Wolf,M., Finzsch,M. and Wegner,M. TITLE The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors JOURNAL Nucleic Acids Res. 34 (6), 1735-1744 (2006) PUBMED 16582099 REMARK Publication Status: Online-Only REFERENCE 5 (bases 1 to 2330) AUTHORS Gianakopoulos,P.J. and Skerjanc,I.S. TITLE Hedgehog signaling induces cardiomyogenesis in P19 cells JOURNAL J. Biol. Chem. 280 (22), 21022-21028 (2005) PUBMED 15793308 REFERENCE 6 (bases 1 to 2330) AUTHORS Petropoulos,H., Gianakopoulos,P.J., Ridgeway,A.G. and Skerjanc,I.S. TITLE Disruption of Meox or Gli activity ablates skeletal myogenesis in P19 cells JOURNAL J. Biol. Chem. 279 (23), 23874-23881 (2004) PUBMED 15039437 REFERENCE 7 (bases 1 to 2330) AUTHORS Stamataki,D., Kastrinaki,M., Mankoo,B.S., Pachnis,V. and Karagogeos,D. TITLE Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors JOURNAL FEBS Lett. 499 (3), 274-278 (2001) PUBMED 11423130 REFERENCE 8 (bases 1 to 2330) AUTHORS Stelnicki,E.J., Komuves,L.G., Holmes,D., Clavin,W., Harrison,M.R., Adzick,N.S. and Largman,C. TITLE The human homeobox genes MSX-1, MSX-2, and MOX-1 are differentially expressed in the dermis and epidermis in fetal and adult skin JOURNAL Differentiation 62 (1), 33-41 (1997) PUBMED 9373945 REFERENCE 9 (bases 1 to 2330) AUTHORS Jones,K.A., Black,D.M., Brown,M.A., Griffiths,B.L., Nicolai,H.M., Chambers,J.A., Bonjardim,M., Xu,C.F., Boyd,M., McFarlane,R. et al. TITLE The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase JOURNAL Hum. Mol. Genet. 3 (11), 1927-1934 (1994) PUBMED 7874108 REFERENCE 10 (bases 1 to 2330) AUTHORS Futreal,P.A., Cochran,C., Rosenthal,J., Miki,Y., Swenson,J., Hobbs,M., Bennett,L.M., Haugen-Strano,A., Marks,J., Barrett,J.C. et al. TITLE Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region on 17q21 by solution hybrid capture JOURNAL Hum. Mol. Genet. 3 (8), 1359-1364 (1994) PUBMED 7987315 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U10492.1, BG677020.1 and BQ028272.1. This sequence is a reference standard in the RefSeqGene project. On Dec 30, 2005 this sequence version replaced gi:21396477. Summary: This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant represents the longest transcript and encodes the longest isoform (1). ##Evidence-Data-START## Transcript exon combination :: U10492.1, AK291139.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1450 U10492.1 1-1450 1451-1930 BG677020.1 262-741 1931-2330 BQ028272.1 1-400 c FEATURES Location/Qualifiers source 1..2330 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17q21" gene 1..2330 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /note="mesenchyme homeobox 1" /db_xref="GeneID:4222" /db_xref="HGNC:7013" /db_xref="HPRD:02537" /db_xref="MIM:600147" STS 1..844 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /db_xref="UniSTS:481122" exon 1..498 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /inference="alignment:Splign:1.39.8" STS 1..322 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /standard_name="GDB:438129" /db_xref="UniSTS:157270" STS 2..784 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /db_xref="UniSTS:482089" CDS 30..794 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /note="isoform 1 is encoded by transcript variant 1; homeobox protein MOX-1" /codon_start=1 /product="homeobox protein MOX-1 isoform 1" /protein_id="NP_004518.1" /db_xref="GI:4758710" /db_xref="CCDS:CCDS11466.1" /db_xref="GeneID:4222" /db_xref="HGNC:7013" /db_xref="HPRD:02537" /db_xref="MIM:600147" /translation="
MDPAASSCMRSLQPPAPVWGCLRNPHSEGNGASGLPHYPPTPFSFHQKPDFLATATAAYPDFSASCLAATPHSLPQEEHIFTEQHPAFPQSPNWHFPVSDARRRPNSGPAGGSKEMGTSSLGLVDTTGGPGDDYGVLGSTANETEKKSSRRRKESSDNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE
" misc_feature 543..719 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(543..557,561..563,612..614,630..632,669..671, 675..680,687..692,696..704,708..713) /gene="MEOX1" /gene_synonym="KFS2; MOX1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(549..551,558..560,678..680,687..692,699..701) /gene="MEOX1" /gene_synonym="KFS2; MOX1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" STS 303..496 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /standard_name="GDB:438132" /db_xref="UniSTS:157271" exon 499..671 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /inference="alignment:Splign:1.39.8" STS 500..667 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /standard_name="GDB:438137" /db_xref="UniSTS:157272" exon 672..2315 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /inference="alignment:Splign:1.39.8" STS 765..978 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /standard_name="SGC35253" /db_xref="UniSTS:43593" variation 1830 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /replace="a" /replace="t" /db_xref="dbSNP:1042080" variation 1840 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /replace="a" /replace="g" /db_xref="dbSNP:1042082" variation 1842 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /replace="a" /replace="c" /db_xref="dbSNP:1042084" STS 1843..2086 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /standard_name="GDB:438128" /db_xref="UniSTS:157269" variation 2009 /gene="MEOX1" /gene_synonym="KFS2; MOX1" /replace="a" /replace="g" /db_xref="dbSNP:11422" polyA_signal 2294..2299 /gene="MEOX1" /gene_synonym="KFS2; MOX1" polyA_signal 2303..2308 /gene="MEOX1" /gene_synonym="KFS2; MOX1" polyA_site 2315 /gene="MEOX1" /gene_synonym="KFS2; MOX1" ORIGIN
aaaggaccgaggcgtgcagcggacagcagatggatcccgcggccagcagctgcatgaggagcctccagcccccagcccctgtctggggctgccttcgaaacccccactcggaaggcaatggggcctcagggctaccccactacccgcccaccccgttctccttccaccagaaaccagacttcctggcgacagcgacggcagcgtaccctgacttctcagcctcctgcctggcagccaccccacacagcctgccccaggaggagcacatcttcactgagcagcaccccgctttcccacagtcccccaactggcacttccctgtctcagacgcccggcgcaggcccaactcaggcccggcagggggttccaaggaaatggggaccagcagcctgggcctggtggacaccacaggaggcccaggcgatgactacggggtgcttgggagcactgccaatgagacagagaagaaatcatccaggcggagaaaggagagttcagacaaccaggagaacagagggaagccggagggcagcagcaaagcccgcaaggagaggacggccttcaccaaggagcagctgcgagagctggaggcagagtttgcccatcataactacctgactcggctccgcagatatgagattgcggtaaacctggacctctctgagcgccaggtcaaagtgtggttccagaaccgaaggatgaagtggaagcgtgtgaagggaggtcagcccatctcccccaatgggcaggaccctgaggatggggactccacagcctctccaagttcagagtgagattctgcatggaggaaaaatgactaaggactgagccccctacccaactacccccaccccaatcccaccttcaccctcttccttccccagccagggcagcctctccacatctttccctgactcttggatatgaaactgcccagcattcctgggagtcttaggattttctaggaagttctgtccagcctcttagcagcctcttccctagggcctttgctcccacactctcatggaatcagacagagatcctaccgggccggatgaatctggaaacagcttcagagatactgcttctcagcgtctcttggctgccacccatgcctcctcctaccgctgttctcctaggtcagccaggcctcctcctggtctggacaccacctggcctggtgggagaggagctttggaaccagctggcgactcggaaagtaaatgcttcaaaaggaaggaaatgacagagacacacgcccttgcccaccttcctctgtaggctgcacatctgaggctttggggccccttagttgtcccgaaaccccaagaaaaatcagaatgaggagagtcaaggacagcaactcagctgctgcaagccagaaacacatccctgtctccaaatttgttggctaagtggagacacttctgagaactgactagagaagacagaaaaatagcccgatgtaggtttcggtgtccccatataggcccgtccacacaggcttgactgggtggacaagaatgaacccatgacagcacctgctgcttcaaaatcaaaatcaatttagggatacagcaggggctgttgggctgtgctccagagaaaaggagcagctactccttttaaatccacgatttctggattgaaaacctgtccagatgctgagttgttgggctgaacaactaggagctgaaaacaacgtagaggctggaaagtgtcccctgcattctggaggggaggggagataataaggagggctgctgggtgagggcctggagatgtggaaccctggagtggaaggttctccagtgacagtgtcctgtgactgcaaaaggggacaagaaaatccctcttcctccatgggatggatttaagctcttgctgtgtgttctacaaatgctgttattgtgggaggaaatgctaggtttttgtgtgtggactgcccagacctcagccaggtcttctggagatgacatttgaggactgatggccaaagagcatgggggactgaagccctggctgcctcagcgctctgtctcccaacaccagctggtgttgcagagggaggtcaacgtgagtttggatctcttgtacgcagatgtaatcattcacatgtaaaaataaccccacctccccaccccaaaaagggcaagagctgtggaaaatgattgccaaatgagatggctggttagagcatgattttttctaaagcatacttcatatattttcttaagattacatcaagctaattgtgcgagctcaattcactttgtaagaaaactctcggagaaataaaatcaataaaaagcaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:4222 -> Molecular function: GO:0003674 [molecular_function] evidence: ND GeneID:4222 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA GeneID:4222 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:4222 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:4222 -> Molecular function: GO:0071837 [HMG box domain binding] evidence: IEA GeneID:4222 -> Biological process: GO:0001757 [somite specification] evidence: IEA GeneID:4222 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS GeneID:4222 -> Biological process: GO:0008150 [biological_process] evidence: ND GeneID:4222 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:4222 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
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